A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978957



Internal ID12632708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:16446520..17005520hg38UCSC Ensembl
Innerchr8:16304029..16863029hg19UCSC Ensembl
Innerchr8:16348400..16907400hg18UCSC Ensembl
Innerchr8:16348400..16907400hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38559001
hg19559001
hg18559001
hg17559001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34335
Supporting Variants
SamplesNA12802
Known GenesFGF20
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978957
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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